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    FDX2 ferredoxin 2 [ Homo sapiens (human) ]

    Gene ID: 112812, updated on 5-Nov-2024

    Summary

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    Official Symbol
    FDX2provided by HGNC
    Official Full Name
    ferredoxin 2provided by HGNC
    Primary source
    HGNC:HGNC:30546
    See related
    Ensembl:ENSG00000267673 MIM:614585; AllianceGenome:HGNC:30546
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FDX1L; MEOAL
    Summary
    This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014]
    Expression
    Ubiquitous expression in brain (RPKM 12.1), thyroid (RPKM 8.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FDX2 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10310045..10316015, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10436158..10442125, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10420721..10426691, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10402483-10403475 Neighboring gene intercellular adhesion molecule 5 Neighboring gene CRISPRi-validated cis-regulatory element chr19.1775 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:10415538-10416737 Neighboring gene FDX2-ZGLP1 readthrough Neighboring gene zinc finger GATA like protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10064 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10427579-10427770 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10430834-10431047 Neighboring gene ribonucleoprotein, PTB binding 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10442682-10443598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10443599-10444515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10445230-10445848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10448906-10449654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13960 Neighboring gene intercellular adhesion molecule 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human ferredoxin-2 displays a unique conformational change. Qi W, et al. Dalton Trans, 2013 Mar 7. PMID 23208207, Free PMC Article
    2. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Spiegel R, et al. Eur J Hum Genet, 2014 Jul. PMID 24281368, Free PMC Article
    3. Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2. Grifagni D, et al. Protein Sci, 2024 Nov. PMID 39467201, Free PMC Article
    4. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Gurgel-Giannetti J, et al. Brain, 2018 Aug 1. PMID 30010796, Free PMC Article
    5. Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2. Schulz V, et al. Nat Chem Biol, 2023 Feb. PMID 36280795, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.
      Title: Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.
    2. Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2.
      Title: Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2.
    3. FDX1 and FDX2 both bind NFS1 and donate electrons for iron-sulfur cluster biosynthesis.
      Title: Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron-Sulfur Cluster Biosynthesis.
    4. By binding zinc-free ISCU, iron drives persulfide uptake from NFS1 and allows persulfide reduction into sulfide by FDX2, thereby coordinating sulfide production with its availability to generate Fe-S clusters. FXN stimulates the whole process by accelerating persulfide transfer. This reconstitution recapitulates physiological conditions which provides a model for Fe-S cluster biosynthesis on the scaffold protein ISCU.
      Title: Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.
    5. The phenotype was mapped to the same homozygous missense mutation in FDX2 (c.431C > T, p.P144L). The deleterious effect of the mutation was validated by real-time reverse transcription polymerase chain reaction and western blot analysis, which demonstrated normal expression of FDX2 mRNA but severely reduced expression of FDX2 protein in muscle tissue.
      Title: A novel complex neurological phenotype due to a homozygous mutation in FDX2.
    6. Fdx2 is the second component of the Fe-S cluster biogenesis machinery, the first being IscU that is associated with isolated mitochondrial myopathy.
      Title: Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
    7. unique conformational change is observed when holo hFd2 is warmed to physiological temperatures, or higher
      Title: Human ferredoxin-2 displays a unique conformational change.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC19604, MGC74760

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2 iron, 2 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables electron transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables electron transfer activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in P450-containing electron transport chain IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in [2Fe-2S] cluster assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of [4Fe-4S] cluster assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in electron transport chain IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in iron-sulfur cluster assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of iron-sulfur cluster assembly complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ferredoxin-2, mitochondrial
    Names
    adrenodoxin-like protein, mitochondrial
    ferredoxin 1 like

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034259.1 RefSeqGene

      Range
      5001..10971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001397406.1 → NP_001384335.1  ferredoxin-2, mitochondrial

      Status: REVIEWED

      Source sequence(s)
      AC011511
      Consensus CDS
      CCDS32905.3
      UniProtKB/Swiss-Prot
      B7Z6L7, Q6P4F2, Q8N8B8
      Related
      ENSP00000377311.5, ENST00000393708.3
      Conserved Domains (1) summary
      PLN02593
      Location:68 → 183
      PLN02593; adrenodoxin-like ferredoxin protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      10310045..10316015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      10436158..10442125 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_080665.3: Suppressed sequence

      Description
      NM_080665.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P4F2.3 GenPept UniProtKB/Swiss-Prot:Q6P4F2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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